ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001437999 SCV001640865 likely benign Alstrom syndrome 2020-11-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796495 SCV002034063 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001796496 SCV002034726 benign not specified no assertion criteria provided clinical testing

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