ClinVar Miner

Submissions for variant NM_020223.4(FAM20C):c.1681G>A (p.Val561Met)

gnomAD frequency: 0.00213  dbSNP: rs145750007
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173883 SCV000225051 benign not specified 2014-10-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224271 SCV000281606 likely benign not provided 2015-05-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000224271 SCV001719682 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000224271 SCV001870881 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500462 SCV002812420 likely benign Lethal osteosclerotic bone dysplasia 2021-09-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224271 SCV005228266 likely benign not provided criteria provided, single submitter not provided

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