ClinVar Miner

Submissions for variant NM_001303052.2(MYT1L):c.1422C>T (p.Pro474=)

gnomAD frequency: 0.00034  dbSNP: rs199944271
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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 RCV000896620 SCV001040723 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000896620 SCV001845578 benign not provided 2021-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000896620 SCV004138501 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing MYT1L: BP4, BP7

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