ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.60G>A (p.Glu20=)

gnomAD frequency: 0.00005  dbSNP: rs183407241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458515 SCV000554316 likely benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001375590 SCV001572489 likely benign not specified 2021-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001564144 SCV001787257 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001564144 SCV004154980 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ALMS1: BP4, BP7

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