ClinVar Miner

Submissions for variant NM_020810.3(TRMT5):c.535C>A (p.His179Asn)

dbSNP: rs76079086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000438330 SCV000511066 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000438330 SCV001028949 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000438330 SCV005212115 likely benign not provided criteria provided, single submitter not provided

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