ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp)

gnomAD frequency: 0.00026  dbSNP: rs202145313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532939 SCV000640747 benign Nemaline myopathy 2 2024-01-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129899 SCV003809579 uncertain significance not provided 2023-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639270 SCV005146300 uncertain significance Inborn genetic diseases 2024-06-11 criteria provided, single submitter clinical testing The c.19329G>C (p.E6443D) alteration is located in exon 146 (coding exon 144) of the NEB gene. This alteration results from a G to C substitution at nucleotide position 19329, causing the glutamic acid (E) at amino acid position 6443 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000532939 SCV002083946 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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