ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2253A>T (p.Lys751Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005033556 SCV005673766 uncertain significance Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Arthrogryposis, distal, IIa 11 2024-06-19 criteria provided, single submitter clinical testing

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