ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.177G>A (p.Pro59=)

gnomAD frequency: 0.00004  dbSNP: rs370131551
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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 RCV002160709 SCV002465971 likely benign Frontotemporal dementia 2023-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704801 SCV005212932 likely benign not provided criteria provided, single submitter not provided

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