ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu)

gnomAD frequency: 0.00015  dbSNP: rs376609115
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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 RCV001044420 SCV001208218 likely benign Nemaline myopathy 2 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553112 SCV003708127 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.17432C>T (p.P5811L) alteration is located in exon 127 (coding exon 125) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 17432, causing the proline (P) at amino acid position 5811 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132165 SCV003812284 uncertain significance not provided 2020-03-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001044420 SCV001463282 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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