Submissions for variant NM_144997.7(FLCN):c.205G>A (p.Val69Ile)

dbSNP: rs567617762

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000461839	SCV000560327	likely benign	Birt-Hogg-Dube syndrome	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574441	SCV000673418	likely benign	Hereditary cancer-predisposing syndrome	2020-03-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000611358	SCV000725751	likely benign	not specified	2017-12-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Baylor Genetics	RCV001336976	SCV001530521	uncertain significance	Familial spontaneous pneumothorax	2018-04-26	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Myriad Genetics, Inc.	RCV000461839	SCV004019769	likely benign	Birt-Hogg-Dube syndrome	2023-04-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic.