ClinVar Miner

Submissions for variant NM_001106.4(ACVR2B):c.771C>T (p.Leu257=)

gnomAD frequency: 0.00003  dbSNP: rs527396511
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511861 SCV001719173 benign Heterotaxy, visceral, 4, autosomal 2022-07-12 criteria provided, single submitter clinical testing

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