ClinVar Miner

Submissions for variant NM_001036.5(RYR3):c.9799C>T (p.Pro3267Ser) (rs182972491)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529288 SCV000634916 likely benign Epileptic encephalopathy 2020-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623446 SCV000742403 uncertain significance Inborn genetic diseases 2017-07-05 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001175275 SCV001338876 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 08-01-2017 by Lab or GTR ID 61756. 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.

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