ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.11A>T (p.His4Leu) (rs1157253322)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990081 SCV001140868 uncertain significance Amyloidogenic transthyretin amyloidosis 2019-05-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173302 SCV001336386 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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