ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3210G>A (p.Thr1070=)

gnomAD frequency: 0.00158  dbSNP: rs375699173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176617 SCV000228303 benign not specified 2015-02-12 criteria provided, single submitter clinical testing
GeneDx RCV001721111 SCV000527456 likely benign not provided 2018-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000528949 SCV000650238 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2025-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001721111 SCV005222337 likely benign not provided criteria provided, single submitter not provided

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