ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)

gnomAD frequency: 0.00018  dbSNP: rs199957886
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516362 SCV000614171 uncertain significance not specified 2017-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000703154 SCV000832040 benign Nemaline myopathy 2 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527496 SCV003710699 uncertain significance Inborn genetic diseases 2022-03-21 criteria provided, single submitter clinical testing The c.18274A>C (p.M6092L) alteration is located in exon 135 (coding exon 133) of the NEB gene. This alteration results from a A to C substitution at nucleotide position 18274, causing the methionine (M) at amino acid position 6092 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003133299 SCV003811561 likely benign not provided 2023-06-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000703154 SCV001456466 uncertain significance Nemaline myopathy 2 2020-01-09 no assertion criteria provided clinical testing

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