ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2916G>T (p.Pro972=)

dbSNP: rs758017419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713742 SCV000844371 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV000713742 SCV001616850 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457739 SCV004180823 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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