ClinVar Miner

Submissions for variant NM_001492.6(GDF1):c.55C>G (p.Leu19Val)

gnomAD frequency: 0.00129  dbSNP: rs370986101
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247373 SCV000307991 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726820 SCV000703296 uncertain significance not provided 2016-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000726820 SCV001001817 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000726820 SCV001931773 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000726820 SCV001955349 likely benign not provided no assertion criteria provided clinical testing

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