ClinVar Miner

Submissions for variant NM_001146262.4(SYT14):c.408T>C (p.Tyr136=)

gnomAD frequency: 0.00175  dbSNP: rs71515148
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713570 SCV000844194 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713570 SCV001101230 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713570 SCV004125527 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SYT14: BP4, BP7

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