ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.6125A>G (p.Asn2042Ser)

dbSNP: rs116926961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514070 SCV000609520 likely benign not provided 2017-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086314 SCV000634859 benign Epileptic encephalopathy 2025-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514070 SCV005214351 likely benign not provided criteria provided, single submitter not provided

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