ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1326C>T (p.Pro442=)

gnomAD frequency: 0.00017  dbSNP: rs201312701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001579448 SCV004009811 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MAPT: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579448 SCV001807271 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579448 SCV001969922 likely benign not provided no assertion criteria provided clinical testing

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