ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4915C>A (p.Arg1639=)

dbSNP: rs753322092
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230114 SCV001402584 likely benign not provided 2024-02-24 criteria provided, single submitter clinical testing
GeneDx RCV001230114 SCV001822383 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457967 SCV004180136 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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