ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.6617A>C (p.Asn2206Thr)

gnomAD frequency: 0.00150  dbSNP: rs181264765
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542273 SCV000634862 benign Epileptic encephalopathy 2023-05-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001824819 SCV005093446 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RYR3: BS2
GenomeConnect, ClinGen RCV001824819 SCV002075234 not provided not provided no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 03-08-2015 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV003935437 SCV004755744 likely benign RYR3-related disorder 2019-07-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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