ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.424+1G>A

dbSNP: rs1555625396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596447 SCV000702164 pathogenic not provided 2016-10-11 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004813121 SCV005438314 likely pathogenic Chédiak-Higashi syndrome 2024-12-18 criteria provided, single submitter clinical testing

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