ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3473T>C (p.Ile1158Thr)

dbSNP: rs2520815447
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004555014 SCV005043864 uncertain significance not provided 2024-02-21 criteria provided, single submitter clinical testing PM2, PP3, PP2

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