ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.2172C>T (p.Thr724=)

gnomAD frequency: 0.00044  dbSNP: rs79766279
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877494 SCV001020236 benign not provided 2024-09-24 criteria provided, single submitter clinical testing
GeneDx RCV000877494 SCV001938142 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000877494 SCV005217690 likely benign not provided criteria provided, single submitter not provided

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