ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1419-10G>T

dbSNP: rs1827885925
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280808 SCV001468146 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Q 2020-06-16 no assertion criteria provided clinical testing

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