ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly)

dbSNP: rs376072545
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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 RCV000694601 SCV000823052 likely benign Nemaline myopathy 2 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV005384821 SCV006035091 uncertain significance Inborn genetic diseases 2025-01-23 criteria provided, single submitter clinical testing The c.16756C>G (p.R5586G) alteration is located in exon 121 (coding exon 119) of the NEB gene. This alteration results from a C to G substitution at nucleotide position 16756, causing the arginine (R) at amino acid position 5586 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000694601 SCV002084053 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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