ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3701A>G (p.Tyr1234Cys)

dbSNP: rs1554400286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Spine Surgery of The First Affiliated Hospital, Sun Yat-sen University RCV000626485 SCV000606865 risk factor Arthrogryposis, distal, type 1A no assertion criteria provided clinical testing
OMIM RCV002279723 SCV002568001 pathogenic Arthrogryposis, distal, IIa 11 2022-08-25 no assertion criteria provided literature only

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