ClinVar Miner

Submissions for variant NM_144631.6(ZNF513):c.33C>T (p.Pro11=)

gnomAD frequency: 0.00012  dbSNP: rs149332876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001505880 SCV001710794 likely benign not provided 2024-04-12 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699560 SCV001921221 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001505880 SCV001964279 likely benign not provided no assertion criteria provided clinical testing

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