ClinVar Miner

Submissions for variant NM_000370.3(TTPA):c.303T>G (p.His101Gln)

dbSNP: rs121917849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000055795 SCV004207467 pathogenic Familial isolated deficiency of vitamin E 2023-10-31 criteria provided, single submitter clinical testing
OMIM RCV000009708 SCV000029926 pathogenic Ataxia and retinitis pigmentosa with isolated vitamin E deficiency 1996-12-05 no assertion criteria provided literature only
GeneReviews RCV000055795 SCV000086764 not provided Familial isolated deficiency of vitamin E no assertion provided literature only

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