ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp)

gnomAD frequency: 0.00003  dbSNP: rs1219268531
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815927 SCV000956406 likely benign Nemaline myopathy 2 2023-09-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000815927 SCV002077716 uncertain significance Nemaline myopathy 2 2020-07-16 no assertion criteria provided clinical testing

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