ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.234G>A (p.Leu78=)

dbSNP: rs566623718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001495753 SCV001700442 likely benign Charcot-Marie-Tooth disease axonal type 2P 2018-02-06 criteria provided, single submitter clinical testing

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