ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser)

dbSNP: rs751394716
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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 RCV001045664 SCV001209530 benign Nemaline myopathy 2 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031407 SCV004979412 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.19966G>A (p.G6656S) alteration is located in exon 150 (coding exon 148) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 19966, causing the glycine (G) at amino acid position 6656 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001045664 SCV002083925 uncertain significance Nemaline myopathy 2 2020-12-14 no assertion criteria provided clinical testing

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