ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=)

dbSNP: rs771595125
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001274967 SCV001695003 likely benign Alstrom syndrome 2021-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000863675 SCV001766667 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442803 SCV002612185 likely benign Cardiovascular phenotype 2019-08-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001274967 SCV001459602 uncertain significance Alstrom syndrome 2020-03-17 no assertion criteria provided clinical testing

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