ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.5548-43_5548-40del

gnomAD frequency: 0.24521  dbSNP: rs35853884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711011 SCV001938679 benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810284 SCV002057480 benign Arrhinia with choanal atresia and microphthalmia syndrome 2021-07-15 criteria provided, single submitter clinical testing

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