ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1676A>G (p.Asn559Ser)

gnomAD frequency: 0.00007  dbSNP: rs150420625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267188 SCV001445369 uncertain significance Inborn genetic diseases 2018-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289089 SCV001476673 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing

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