ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.621-5C>T

gnomAD frequency: 0.00009  dbSNP: rs200585294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879267 SCV001022288 likely benign Rafiq syndrome 2024-06-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000879267 SCV001327826 likely benign Rafiq syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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