ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1194C>T (p.Gly398=)

dbSNP: rs1659805814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002552498 SCV001204738 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001041138 SCV001455893 uncertain significance Fumarase deficiency 2020-06-11 no assertion criteria provided clinical testing

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