ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) (rs139512700)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204223 SCV000262081 benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001711618 SCV000533282 benign not provided 2019-08-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000440341 SCV000864105 likely benign not specified 2016-02-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000440341 SCV000967033 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Tyr394Tyr in exon 5 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.17% (114/9744) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs139512700).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001711618 SCV001978309 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001711618 SCV001980047 likely benign not provided no assertion criteria provided clinical testing

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