ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.988C>T (p.Arg330Trp)

gnomAD frequency: 0.00002  dbSNP: rs1489695877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987496 SCV002224255 uncertain significance Eichsfeld type congenital muscular dystrophy 2021-09-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484731 SCV002789089 uncertain significance Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 2022-05-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003407990 SCV004123538 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing

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