ClinVar Miner

Submissions for variant NM_004132.5(HABP2):c.568+9C>T

gnomAD frequency: 0.00734  dbSNP: rs11575755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000374086 SCV000360491 likely benign Factor VII Marburg I Variant Thrombophilia 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000947284 SCV001093456 benign not provided 2018-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000947284 SCV002513633 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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