Submissions for variant NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) (rs587778324)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000533496	SCV000626216	uncertain significance	Fanconi anemia	2019-11-07	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with serine at codon 252 of the FANCA protein (p.Asp252Ser). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCA-related disease. ClinVar contains an entry for this variant (Variation ID: 134291). Prediction algorithms are not available for this variant, and the functional significance of this missense change is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics	RCV000764091	SCV000895055	uncertain significance	Fanconi anemia, complementation group A	2018-10-31	criteria provided, single submitter	clinical testing
ITMI	RCV000120964	SCV000085132	not provided	not specified	2013-09-19	no assertion provided	reference population

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