ClinVar Miner

Submissions for variant NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn)

gnomAD frequency: 0.00002  dbSNP: rs372827767
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 RCV000694752 SCV000823210 likely benign Nemaline myopathy 2 2023-08-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000694752 SCV002084070 uncertain significance Nemaline myopathy 2 2020-09-14 no assertion criteria provided clinical testing

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