ClinVar Miner

Submissions for variant NM_002373.6(MAP1A):c.1446A>G (p.Gly482=)

gnomAD frequency: 0.00154  dbSNP: rs55941117
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890579 SCV001034334 benign not provided 2018-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890579 SCV004136502 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing MAP1A: BP4, BP7

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