ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2436+17C>T

gnomAD frequency: 0.01054  dbSNP: rs148420017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516045 SCV001724254 benign Deficiency of alpha-mannosidase 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000675475 SCV002576263 likely benign not provided 2019-06-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Mayo Clinic Laboratories, Mayo Clinic RCV000675475 SCV000801164 likely benign not provided 2017-02-27 no assertion criteria provided clinical testing

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