ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=)

gnomAD frequency: 0.00001  dbSNP: rs768478218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002451634 SCV002615212 likely benign Cardiovascular phenotype 2020-07-30 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.
Fulgent Genetics, Fulgent Genetics RCV001277431 SCV002779006 uncertain significance Alstrom syndrome 2021-12-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277431 SCV001464380 uncertain significance Alstrom syndrome 2020-08-13 no assertion criteria provided clinical testing

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