ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=)

gnomAD frequency: 0.00001  dbSNP: rs762003836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001272957 SCV001709057 likely benign Alstrom syndrome 2021-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336986 SCV002640651 likely benign Cardiovascular phenotype 2020-03-17 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics RCV001272957 SCV002800544 likely benign Alstrom syndrome 2021-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272957 SCV001455453 uncertain significance Alstrom syndrome 2020-02-13 no assertion criteria provided clinical testing

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