ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.148G>C (p.Val50Leu) (rs28933979)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173291 SCV001336375 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000014382 SCV000034631 pathogenic Amyloidogenic transthyretin amyloidosis 1998-12-01 no assertion criteria provided literature only

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