ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2090G>T (p.Ser697Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001663503 SCV001880314 uncertain significance not provided 2020-09-18 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001825013 SCV002074915 not provided MAPT-Related Spectrum Disorders no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 03-08-2019 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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