ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.684C>T (p.Ile228=)

gnomAD frequency: 0.00003  dbSNP: rs376671005
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001391767 SCV001593396 likely benign Charcot-Marie-Tooth disease axonal type 2P 2020-04-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707583 SCV005227492 likely benign not provided criteria provided, single submitter not provided

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