ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=)

dbSNP: rs1455390186
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001272959 SCV001053953 likely benign Alstrom syndrome 2023-05-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272959 SCV001455464 uncertain significance Alstrom syndrome 2020-03-11 no assertion criteria provided clinical testing

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