ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala)

dbSNP: rs886038612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250910 SCV000312399 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386702 SCV000431913 benign Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328745 SCV002628640 benign Cardiovascular phenotype 2018-12-03 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.

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