ClinVar Miner

Submissions for variant NM_197947.3(CLEC7A):c.547C>T (p.Leu183Phe)

gnomAD frequency: 0.00358  dbSNP: rs140318683
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890139 SCV001033869 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890139 SCV004699381 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CLEC7A: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000890139 SCV005233555 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000890139 SCV001928313 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000890139 SCV001969474 likely benign not provided no assertion criteria provided clinical testing

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