ClinVar Miner

Submissions for variant NM_030578.4(B9D2):c.195C>T (p.Phe65=)

gnomAD frequency: 0.00261  dbSNP: rs34088631
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229326 SCV000290938 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000254415 SCV000314624 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001546593 SCV001766134 likely benign not provided 2020-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001546593 SCV004033675 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing B9D2: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001546593 SCV001932055 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001546593 SCV001964805 likely benign not provided no assertion criteria provided clinical testing

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