ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.886A>G (p.Met296Val) (rs104894830)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179267 SCV000231489 pathogenic not provided 2015-11-23 criteria provided, single submitter clinical testing
Color Health, Inc RCV001185735 SCV001352002 likely pathogenic Fabry disease 2019-07-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001185735 SCV001522948 pathogenic Fabry disease 2020-11-05 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000011464 SCV000031696 pathogenic Fabry disease, cardiac variant 1991-02-07 no assertion criteria provided literature only

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