ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12363-18A>C

gnomAD frequency: 0.00003  dbSNP: rs199968770
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001520810 SCV001730007 benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001569520 SCV001793617 likely benign not provided 2019-04-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001520810 SCV002800082 likely benign Alstrom syndrome 2021-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001569520 SCV004155015 benign not provided 2023-02-01 criteria provided, single submitter clinical testing ALMS1: BS1, BS2

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