ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.95del (p.His32fs)

dbSNP: rs1085307093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490527 SCV000267486 uncertain significance Normophosphatemic familial tumoral calcinosis 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV004767159 SCV005377636 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 1558 amino acids are replaced with 4 different amino acids; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 16960814, 18094730)

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