ClinVar Miner

Submissions for variant NM_002373.6(MAP1A):c.3933C>T (p.Ser1311=)

gnomAD frequency: 0.00420  dbSNP: rs182020053
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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 RCV000964535 SCV001111753 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964535 SCV004136503 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing MAP1A: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000964535 SCV005290506 benign not provided criteria provided, single submitter not provided

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