ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) (rs183390773)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227051 SCV000290110 benign Alstrom syndrome 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001697682 SCV000532479 likely benign not provided 2021-09-21 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000422165 SCV001917986 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001697682 SCV001927305 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001697682 SCV001964392 likely benign not provided no assertion criteria provided clinical testing

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