ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.143A>T (p.His48Leu)

dbSNP: rs1590547374
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003497889 SCV001034193 benign Exostoses, multiple, type 2 2023-06-28 criteria provided, single submitter clinical testing

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