ClinVar Miner

Submissions for variant NM_001127453.2(GSDME):c.576+21C>A

gnomAD frequency: 0.56398  dbSNP: rs876307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661392 SCV001876647 benign Autosomal dominant nonsyndromic hearing loss 5 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001676071 SCV001893480 benign not provided 2018-06-22 criteria provided, single submitter clinical testing

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