ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup)

dbSNP: rs1564287871
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon RCV000709699 SCV000839590 pathogenic Charcot-Marie-Tooth disease axonal type 2P 2018-06-29 no assertion criteria provided clinical testing

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