ClinVar Miner

Submissions for variant NM_015268.4(DNAJC13):c.4385G>A (p.Arg1462His)

gnomAD frequency: 0.00674  dbSNP: rs61748103
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960016 SCV001106961 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000960016 SCV005300022 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000960016 SCV001808430 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727828 SCV001975252 benign not specified no assertion criteria provided clinical testing

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