ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) (rs147831309)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698365 SCV000534523 benign not provided 2018-10-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000425339 SCV000593117 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing
Invitae RCV000537030 SCV000631759 benign Alstrom syndrome 2020-12-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000425339 SCV000705097 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000425339 SCV000967154 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser3914Ser in exon 18 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 0.37% (61/16494) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs147831309).
Clinical Genetics,Academic Medical Center RCV000425339 SCV001926110 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001698365 SCV001927913 likely benign not provided no assertion criteria provided clinical testing

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