ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) (rs137932254)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083501 SCV000290106 likely benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710534 SCV000332367 uncertain significance not provided 2015-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000710534 SCV000534306 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710534 SCV000840774 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000276445 SCV000967149 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser2814Ser in exon 10 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.25% (167/66098 ) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs137932254).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000276445 SCV001426849 likely benign not specified 2020-07-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710534 SCV001501284 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001083501 SCV001528932 uncertain significance Alstrom syndrome 2018-09-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Nilou-Genome Lab RCV001083501 SCV001781465 likely benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing

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