ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) (rs367648094)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696773 SCV000534522 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing
Invitae RCV000465320 SCV000554300 likely benign Alstrom syndrome 2020-12-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000442133 SCV000967146 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Cys157Cys in exon 3 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.07% (6/8594) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs367648094).

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