ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1432+15G>A

gnomAD frequency: 0.00004  dbSNP: rs376610564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665781 SCV000789953 likely benign Alstrom syndrome 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000665781 SCV002388074 likely benign Alstrom syndrome 2023-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665781 SCV002805143 likely benign Alstrom syndrome 2021-08-30 criteria provided, single submitter clinical testing

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